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Uptodate Reference Title
Peripheral blood flow cytometry profile in HIGM
Peripheral blood flow cytometry profile in HIGM
CD40L (aka CD154) expression in unstimulated and stimulated CD4+ T cells. Normal individuals show CD40L upregulation, while patients with XL-HIGM syndrome do not. Carriers of the pathogenic variant show bimodal expression pattern.
HIGM: hyperimmunoglobulin M syndrome; XL-HIGM: X-linked hyperimmunoglobulin M syndrome.